UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs1064156
gnomAD v2:
9-133753906-G-A
gnomAD v4:
9-130878519-G-A
COSMIC:
COSM12634
CIViC:
CA200648598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130878519G>A , CM000671.2:g.130878519G>A | GRCh38 |
| NC_000009.11:g.133753906G>A , CM000671.1:g.133753906G>A | GRCh37 |
| NC_000009.10:g.132743727G>A | NCBI36 |
| NG_012034.1:g.169639G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.1432G>A | ENSP00000361423.2:p.Glu478Lys | |
| ENST00000318560.6:c.1375G>A MANE Select | ENSP00000323315.5:p.Glu459Lys | |
| ENST00000372348.7:c.1432G>A | ENSP00000361423.2:p.Glu478Lys | |
| ENST00000318560.5:c.1375G>A | ENSP00000323315.5:p.Glu459Lys | |
| ENST00000372348.6:c.1432G>A | ENSP00000361423.2:p.Glu478Lys | |
| NM_005157.5:c.1375G>A | NP_005148.2:p.Glu459Lys | |
| NM_007313.2:c.1432G>A | NP_009297.2:p.Glu478Lys | |
| NM_005157.6:c.1375G>A MANE Select | NP_005148.2:p.Glu459Lys | |
| NM_007313.3:c.1432G>A | NP_009297.2:p.Glu478Lys |